Items where Division is "Medicine > Lehrstuhl für Humangenetik" and Year is 2010

B

Brandl, C. and Kaesbauer, J. and Weber, B. H. F. and Morsczeck, Christian (2010) Spontaneous immortalization of neural crest-derived corneal progenitor cells after chromosomal aberration. CELL PROLIFERATION, 43 (4). pp. 372-377. ISSN 0960-7722

C

Corbo, J. C. and Lawrence, K. and Myers, C. and Karlstetter, M. and Weigelt, K. and Seifert, K. and Benes, V. and Stoehr, H. and Weber, B. H. F. and Langmann, T. (2010) Crx ChIP-Seq Reveals Combinatorial Architecture of the Photoreceptor Cis-Regulatory Network. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 51 (13). p. 1088. ISSN 0146-0404, 1552-5783

Corbo, Joseph C. and Lawrence, Karen A. and Karlstetter, Marcus and Myers, Connie A. and Abdelaziz, Musa and Dirkes, William and Weigelt, Karin and Seifert, Martin and Benes, Vladimir and Fritsche, Lars G. and Weber, Bernhard H. F. and Langmann, Thomas (2010) CRX ChIP-seq reveals the cis-regulatory architecture of mouse photoreceptors. GENOME RESEARCH, 20 (11). pp. 1512-1525. ISSN 1088-9051, 1549-5469

D

Dirscherl, Konstantin and Karlstetter, Marcus and Ebert, Stefanie and Kraus, Dominik and Hlawatsch, Julia and Walczak, Yana and Moehle, Christoph and Fuchshofer, Rudolf and Langmann, Thomas (2010) Luteolin triggers global changes in the microglial transcriptome leading to a unique anti-inflammatory and neuroprotective phenotype. JOURNAL OF NEUROINFLAMMATION, 7: 3. ISSN 1742-2094

E

Edener, Ulf and Woellner, Janine and Hehr, Ute and Kohl, Zacharias and Schilling, Stefan and Kreuz, Friedmar and Bauer, Peter and Bernard, Veronica and Gillessen-Kaesbach, Gabriele and Zuehlke, Christine (2010) Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation. EUROPEAN JOURNAL OF HUMAN GENETICS, 18 (8). pp. 965-968. ISSN 1018-4813, 1476-5438

F

Felthaus, Oliver and Ernst, Wolfgang and Driemel, Oliver and Reichert, Torsten E. and Schmalz, Gottfried and Morsczeck, Christian (2010) TGF-beta stimulates glial-like differentiation in murine dental follicle precursor cells (mDFPCs). NEUROSCIENCE LETTERS, 471 (3). pp. 179-184. ISSN 0304-3940, 1872-7972

Fernandez-Martinez, L. and Letteboer, S. and Mardin, C. Y. and Weisschuh, N. and Weber, B. H. and Rautenstrauss, B. and Kruse, F. E. and Reis, A. and Roepman, R. and Pasutto, F. (2010) Heterozygous Rpgrip1 Mutations Are Associated With Primary Open-Angle Glaucoma. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 51 (13). p. 2168. ISSN 0146-0404, 1552-5783

Fritsche, Lars G. and Lauer, Nadine and Hartmann, Andrea and Stippa, Selina and Keilhauer, Claudia N. and Oppermann, Martin and Pandey, Manoj K. and Koehl, Joerg and Zipfel, Peter F. and Weber, Bernhard H. F. and Skerka, Christine (2010) An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD). HUMAN MOLECULAR GENETICS, 19 (23). pp. 4694-4704. ISSN 0964-6906

G

Grassl, M. and Stark, K. and Fenk, S. and Hoecherl, R. and Hubauer, U. and Reinhard, W. and Zollbrecht, C. and Ebert, S. and Langmann, T. and Hengstenberg, C. (2010) Difference in gene expression of macrophages stimulated with atherogenic substances regarding the chromosome 9p21. EUROPEAN HEART JOURNAL, 31 (suppl1). p. 538. ISSN 0195-668X

H

Hehr, Ute and Pineda-Alvarez, Daniel E. and Uyanik, Goekhan and Hu, Ping and Zhou, Nan and Hehr, Andreas and Schell-Apacik, Chayim and Altus, Carola and Daumer-Haas, Cornelia and Meiner, Annechristin and Steuernagel, Peter and Roessler, Erich and Winkler, Juergen and Muenke, Maximilian (2010) Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly. HUMAN GENETICS, 127 (5). pp. 555-561. ISSN 0340-6717

K

Karlstetter, Marcus and Ebert, Stefanie and Langmann, Thomas (2010) Microglia in the healthy and degenerating retina: Insights from novel mouse models. IMMUNOBIOLOGY, 215 (9-10). pp. 685-691. ISSN 0171-2985

Karlstetter, Marcus and Walczak, Yana and Weigelt, Karin and Ebert, Stefanie and Van den Brulle, Jan and Schwer, Heinz and Fuchshofer, Rudolf and Langmann, Thomas (2010) The Novel Activated Microglia/Macrophage WAP Domain Protein, AMWAP, Acts as a Counter-Regulator of Proinflammatory Response. JOURNAL OF IMMUNOLOGY, 185 (6). pp. 3379-3390. ISSN 0022-1767, 1550-6606

Krumbiegel, Mandy and Pasutto, Francesca and Mardin, Christian Y. and Weisschuh, Nicole and Paoli, Daniela and Gramer, Eugen and Weber, Bernhard H. F. and Kruse, Friedrich E. and Schloetzer-Schrehardt, Ursula and Reis, Andre (2010) Apolipoprotein E Genotypes in Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma. JOURNAL OF GLAUCOMA, 19 (8). pp. 561-565. ISSN 1057-0829, 1536-481X

L

Langmann, Thomas and Di Gioia, Silvio Alessandro and Rau, Isabella and Stoehr, Heidi and Maksimovic, Nela S. and Corbo, Joseph C. and Renner, Agnes B. and Zrenner, Eberhart and Kumaramanickavel, Govindasamy and Karlstetter, Marcus and Arsenijevic, Yvan and Weber, Bernhard H. F. and Gal, Andreas and Rivolta, Carlo (2010) Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa. AMERICAN JOURNAL OF HUMAN GENETICS, 87 (3). pp. 376-381. ISSN 0002-9297, 1537-6605

Lauer, Nadine and Fritsche, Lars G. and Weber, Bernhard H. F. and Hartmann, Andrea and Keilhauer, Claudia N. and Haelbich, Steffi and Oppermann, Martin and Pandey, Manoij and Koehl, Joerg and Zipfel, Peter F. and Skerka, Christine (2010) Imbalance of complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age related macular degeneration (AMD). MOLECULAR IMMUNOLOGY, 47 (13). p. 2211. ISSN 0161-5890

Lauer, Nadine and Mihlan, Michael and Hartmann, Andrea and Schloetzer-Schrehard, Ursula and Keilhauer, Claudia and Scholl, Hendrik P. N. and Charbel-Issa, Peter and Holz, Frank and Weber, Bernhard H. F. and Skerka, Christine and Zipfel, Peter F. (2010) Complement regulation at necrotic cell lesions is impaired by the AMD associated Factor H-H402 risk variant. MOLECULAR IMMUNOLOGY, 47 (13). p. 2211. ISSN 0161-5890

Lommel, M. and Cirak, S. and Willer, T. and Hermann, R. and Uyanik, G. and van Bokhoven, H. and Koerner, C. and Voit, T. and Baric, I. and Hehr, U. and Strahl, S. (2010) Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies. NEUROLOGY, 74 (2). pp. 157-164. ISSN 0028-3878, 1526-632X

M

Milenkovic, Vladimir M. and Brockmann, Marisa and Stoehr, Heidi and Weber, Bernhard H. F. and Strauss, Olaf (2010) Evolution and functional divergence of the anoctamin family of membrane proteins. BMC EVOLUTIONARY BIOLOGY, 10: 319. ISSN 1471-2148

Morsczeck, Christian and Voellner, Florian and Saugspier, Michael and Brandl, Caroline and Reichert, Torsten Eugen and Driemel, Oliver and Schmalz, Gottfried (2010) Comparison of human dental follicle cells (DFCs) and stem cells from human exfoliated deciduous teeth (SHED) after neural differentiation in vitro. CLINICAL ORAL INVESTIGATIONS, 14 (4). pp. 433-440. ISSN 1432-6981, 1436-3771

P

Pasutto, Francesca and Chavarria-Soley, Gabriela and Mardin, Christian Y. and Michels-Rautenstrauss, Karin and Ingelman-Sundberg, Magnus and Fernandez-Martinez, Lorena and Weber, Bernhard H. F. and Rautenstrauss, Bernd and Reis, Andre (2010) Heterozygous Loss-of-Function Variants in CYP1B1 Predispose to Primary Open-Angle Glaucoma. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 51 (1). pp. 249-254. ISSN 0146-0404, 1552-5783

S

Saugspier, Michael and Felthaus, Oliver and Viale-Bouroncle, Sandra and Driemel, Oliver and Reichert, Torsten E. and Schmalz, Gottfried and Morsczeck, Christian (2010) The Differentiation and Gene Expression Profile of Human Dental Follicle Cells. STEM CELLS AND DEVELOPMENT, 19 (5). pp. 707-717. ISSN 1547-3287, 1557-8534

Schroeder, Christopher and Stutzmann, Fanny and Weber, Bernhard H. F. and Riess, Olaf and Bonin, Michael (2010) High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays. BREAST CANCER RESEARCH AND TREATMENT, 122 (1). pp. 287-297. ISSN 0167-6806

Solomon, Benjamin D. and Lacbawan, Felicitas and Mercier, Sandra and Clegg, Nancy J. and Delgado, Mauricio R. and Rosenbaum, Kenneth and Dubourg, Christele and David, Veronique and Olney, Ann Haskins and Wehner, Lars-Erik and Hehr, Ute and Bale, Sherri and Paulussen, Aimee and Smeets, Hubert J. and Hardisty, Emily and Tylki-Szymanska, Anna and Pronicka, Ewa and Clemens, Michelle and McPherson, Elizabeth and Hennekam, Raoul C. M. and Hahn, Jin and Stashinko, Elaine and Levey, Eric and Wieczorek, Dagmar and Roeder, Elizabeth and Schell-Apacik, Chayim Can and Booth, Carol W. and Thomas, Ronald L. and Kenwrick, Sue and Cummings, Derek A. T. and Bous, Sophia M. and Keaton, Amelia and Balog, Joan Z. and Hadley, Donald and Zhou, Nan and Long, Robert and Velez, Jorge I. and Pineda-Alvarez, Daniel E. and Odent, Sylvie and Roessler, Erich and Muenke, Maximilian (2010) Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. JOURNAL OF MEDICAL GENETICS, 47 (8). pp. 513-524. ISSN 0022-2593

Stellzig-Eisenhauer, Angelika and Decker, Eva and Meyer-Marcotty, Philipp and Rau, Christiane and Fiebig, Britta S. and Kress, Wolfram and Saar, Kathrin and Rueschendorf, Franz and Hubner, Norbert and Grimm, Tiemo and Witt, Emil and Weber, Bernhard H. F. (2010) Primary Failure of Eruption (PFE) - Clinical and Molecular Genetics Analysis. JOURNAL OF OROFACIAL ORTHOPEDICS-FORTSCHRITTE DER KIEFERORTHOPADIE, 71 (1). pp. 6-16. ISSN 1434-5293

T

Tchatchou, Sandrine and Riedel, Angela and Lyer, Stefan and Schmutzhard, Julia and Strobel-Freidekind, Olga and Gronert-Sum, Sabine and Mietag, Carola and D'Amato, Mauro and Schlehe, Bettina and Hemminki, Kari and Sutter, Christian and Ditsch, Nina and Blackburn, Anneke and Hill, Linda Zhai and Jerry, D. Joseph and Bugert, Peter and Weber, Bernhard H. F. and Niederacher, Dieter and Arnold, Norbert and Varon-Mateeva, Raymonda and Wappenschmidt, Barbara and Schmutzler, Rita K. and Engel, Christoph and Meindl, Alfons and Bartram, Claus R. and Mollenhauer, Jan and Burwinkel, Barbara (2010) Identification of a DMBT1 Polymorphism Associated with Increased Breast Cancer Risk and Decreased Promoter Activity. HUMAN MUTATION, 31 (1). pp. 60-66. ISSN 1059-7794

Y

Yang, Rongxi and Schlehe, Bettina and Hemminki, Kari and Sutter, Christian and Bugert, Peter and Wappenschmidt, Barbara and Volkmann, Juliane and Varon, Raymonda and Weber, Bernhard H. F. and Niederacher, Dieter and Arnold, Norbert and Meindl, Alfons and Bartram, Claus R. and Schmutzler, Rita K. and Burwinkel, Barbara (2010) A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk. BREAST CANCER RESEARCH AND TREATMENT, 121 (3). pp. 693-702. ISSN 0167-6806